Disorders


 

MGAT2-CDG (CDG-IIa)


Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type IIa, CDG2a, CDGIIa, Congenital Disorder of Glycosylation IIa

 

OMIM

GeneLocusProtein
MGAT214q21Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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